ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.430G>A (p.Ala144Thr)

gnomAD frequency: 0.00003  dbSNP: rs143933558
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992223 SCV001144308 uncertain significance not provided 2021-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327217 SCV002632929 uncertain significance Cardiovascular phenotype 2024-05-08 criteria provided, single submitter clinical testing The c.430G>A (p.A144T) alteration is located in exon 2 (coding exon 1) of the KCND3 gene. This alteration results from a G to A substitution at nucleotide position 430, causing the alanine (A) at amino acid position 144 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002550635 SCV003255437 uncertain significance Spinocerebellar ataxia type 19/22 2023-01-16 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KCND3 protein function. ClinVar contains an entry for this variant (Variation ID: 804955). This variant has not been reported in the literature in individuals affected with KCND3-related conditions. This variant is present in population databases (rs143933558, gnomAD 0.007%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 144 of the KCND3 protein (p.Ala144Thr).

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